Associated Papers
Cellular and genetic drivers of RNA editing variation in the human brain.
Cuddleston WH et al.
Nature Communications, 2022
35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Putative_novel_recoding_events
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 2017
28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.
Bavarva JH et al.
Oncotarget, 2014
24947164 (PubMed )
Supplement: oncotarget-05-4788-s001.pdf
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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